Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516030
rs1057516030
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1057518863
rs1057518863
4 0.925 0.120 3 48567190 missense variant C/A;T snv 0.700 0
dbSNP: rs1057518960
rs1057518960
7 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
dbSNP: rs1567552713
rs1567552713
7 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
dbSNP: rs387907145
rs387907145
36 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
dbSNP: rs557849165
rs557849165
9 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
dbSNP: rs767978562
rs767978562
8 0.790 0.320 13 38851093 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs780261665
rs780261665
9 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs786205124
rs786205124
35 0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 0.700 0
dbSNP: rs886039795
rs886039795
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs121913485
rs121913485
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 1998 1998